De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
Ikegami
T
T
Department of Pediatrics, Yamagata University School of Medicine, Japan.
Nicholson
G
G
Ikeda
H
H
Ishida
A
A
Johnston
H
H
Wise
G
G
Ouvrier
R
R
Hayasaka
K
K
D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D010375:Pedigree; D010649:Phenylalanine / Q000235:genetics; D016133:Polymerase Chain Reaction; D014443:Tyrosine / Q000235:genetics
D018993:Myelin P0 Protein; D014443:Tyrosine; D010649:Phenylalanine; D004247:DNA